Fator de crescimento semelhante à insulina tipo 1, somatomedina C ou IGF-1 é uma proteína produzida no fígado em resposta ao hormônio de crescimento (GH) com papel importante no crescimento, desenvolvimento da musculatura, diminui os níveis de glicose no sangue, reduz os níveis de gordura corporal, altera a oxidação lipídica e aumenta a síntese de proteínas.
Introdução
O que você precisa saber de cara
Doença rara que afeta o metabolismo da glicose, causando atraso de crescimento, ptose, nefropatia e coma hipoglicêmico. Pode apresentar atividade reduzida da 6-fosfofrutoquinase muscular e nível reduzido de peptídeo C.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 144 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 323 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
28 genes identificados com associação a esta condição.
Serine/threonine-protein kinase which acts as an essential component of the MAP kinase signal transduction pathway. Acts as a MAPK kinase kinase kinase (MAP4K) and is an upstream activator of the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway and to a lesser extent of the p38 MAPKs signaling pathway. Required for the efficient activation of JNKs by TRAF6-dependent stimuli, including pathogen-associated molecular patterns (PAMPs) such as polyinosine-polycytidi
CytoplasmBasolateral cell membraneGolgi apparatus membrane
Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)
Cytoplasm
Glycogen storage disease 11
A metabolic disorder that results in exertional myoglobinuria, pain, cramps and easy fatigue.
Transcriptional regulator which controls the expression of hepatic genes during the transition of endodermal cells to hepatic progenitor cells, facilitating the recruitment of RNA pol II to the promoters of target genes (PubMed:30597922). Activates the transcription of CYP2C38 (By similarity). Represses the CLOCK-BMAL1 transcriptional activity and is essential for circadian rhythm maintenance and period regulation in the liver and colon cells (PubMed:30530698)
Nucleus
Maturity-onset diabetes of the young 1
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Regulator subunit of pancreatic ATP-sensitive potassium channel (KATP), playing a major role in the regulation of insulin release. In pancreatic cells, it forms KATP channels with KCNJ11; KCNJ11 forms the channel pore while ABCC8 is required for activation and regulation
Cell membrane
Leucine-induced hypoglycemia
Rare cause of hypoglycemia and is described as a condition in which symptomatic hypoglycemia is provoked by high protein feedings. Hypoglycemia is also elicited by administration of oral or intravenous infusions of a single amino acid, leucine.
Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420). Activates the transcription of CYP1A2, CYP2E1 and CYP3A11 (By similarity) (Microbial infection) Plays a crucial role for hepatitis B virus gene transcription and DNA replication. Mechanistically, synergistically cooperates with NR5A2 to up-regulate the
Nucleus
Hepatic adenomas familial
Rare benign liver tumors of presumable epithelial origin that develop in an otherwise normal liver. Hepatic adenomas may be single or multiple. They consist of sheets of well-differentiated hepatocytes that contain fat and glycogen and can produce bile. Bile ducts or portal areas are absent. Kupffer cells, if present, are reduced in number and are non-functional. Conditions associated with adenomas are insulin-dependent diabetes mellitus and glycogen storage diseases (types 1 and 3).
Multifunctional adapter protein that binds to various membrane receptors, nuclear factors and signaling proteins to regulate many processes, such as cell proliferation, immune response, endosomal trafficking and cell metabolism (PubMed:10490823, PubMed:15016378, PubMed:19661063, PubMed:26073777, PubMed:26583432). Regulates signaling pathway leading to cell proliferation through interaction with RAB5A and subunits of the NuRD/MeCP1 complex (PubMed:15016378). Functions as a positive regulator of i
Early endosome membraneNucleusCytoplasmEndosomeCell projection, ruffleCytoplasmic vesicle, phagosome
Maturity-onset diabetes of the young 14
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Catalyzes the phosphorylation of D-fructose 6-phosphate to fructose 1,6-bisphosphate by ATP, the first committing step of glycolysis
Cytoplasm
Glycogen storage disease 7
A metabolic disorder characterized by exercise intolerance with associated nausea and vomiting, muscle cramping, exertional myopathy and compensated hemolysis. Short bursts of intense activity are particularly difficult. Severe muscle cramps and myoglobinuria develop after vigorous exercise.
Signal transducer and transcription activator that mediates cellular responses to interleukins, KITLG/SCF, LEP and other growth factors (PubMed:10688651, PubMed:12359225, PubMed:12873986, PubMed:15194700, PubMed:15653507, PubMed:16285960, PubMed:17344214, PubMed:18242580, PubMed:18782771, PubMed:22306293, PubMed:23084476, PubMed:28262505, PubMed:32929201, PubMed:38404237). Once activated, recruits coactivators, such as NCOA1 or MED1, to the promoter region of the target gene (PubMed:15653507, Pu
CytoplasmNucleus
Hyper-IgE syndrome 1, autosomal dominant, with recurrent infections
A rare disorder of immunity and connective tissue characterized by immunodeficiency, chronic eosinophilia, distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures.
Interconverts simultaneously and stereospecifically pyruvate and lactate with concomitant interconversion of NADH and NAD(+)
CytoplasmMitochondrion inner membrane
Lactate dehydrogenase B deficiency
A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected.
Activates insulin, somatostatin, glucokinase, islet amyloid polypeptide and glucose transporter type 2 gene transcription. Particularly involved in glucose-dependent regulation of insulin gene transcription. As part of a PDX1:PBX1b:MEIS2b complex in pancreatic acinar cells is involved in the transcriptional activation of the ELA1 enhancer; the complex binds to the enhancer B element and cooperates with the transcription factor 1 complex (PTF1) bound to the enhancer A element. Binds preferentiall
NucleusCytoplasm, cytosol
Pancreatic agenesis 1
A disease characterized by isolated hypoplasia or agenesis of the pancreas, pancreatic beta-cell failure resulting in neonatal insulin-dependent diabetes mellitus, and exocrine pancreatic insufficiency.
Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis (PubMed:14766013). In addition, may also function as scaffolding protein (By similarity)
Cytoplasm, myofibril, sarcomere, I bandCytoplasm, myofibril, sarcomere, M line
Glycogen storage disease 12
A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis.
Inward rectifier potassium channel that forms the pore of ATP-sensitive potassium channels (KATP), regulating potassium permeability as a function of cytoplasmic ATP and ADP concentrations in many different cells (PubMed:29286281, PubMed:34815345). Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is
Membrane
Hyperinsulinemic hypoglycemia, familial, 2
A form of hyperinsulinemic hypoglycemia, a clinically and genetically heterogeneous disorder characterized by inappropriate insulin secretion from the pancreatic beta-cells in the presence of low blood glucose levels. HHF2 is a common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. HHF2 inheritance can be autosomal dominant or autosomal recessive.
Transcription factor that binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:17924661, PubMed:7900999). Binds to the FPC element in the cAMP regulatory unit of the PLAU gene (By similarity). Transcriptional activity is increased by coactivator PCBD1 (PubMed:24204001)
Nucleus
Renal cysts and diabetes syndrome
An autosomal dominant disorder comprising non-diabetic renal disease resulting from abnormal renal development, and diabetes, which in some cases occurs earlier than age 25 years and is thus consistent with a diagnosis of maturity-onset diabetes of the young (MODY5). The renal disease is highly variable and includes renal cysts, glomerular tufts, aberrant nephrogenesis, primitive tubules, irregular collecting systems, oligomeganephronia, enlarged renal pelves, abnormal calyces, small kidney, single kidney, horseshoe kidney, and hyperuricemic nephropathy. Affected individuals may also have abnormalities of the genital tract.
Pyruvate kinase that catalyzes the conversion of phosphoenolpyruvate to pyruvate with the synthesis of ATP, and which plays a key role in glycolysis
Pyruvate kinase hyperactivity
Autosomal dominant phenotype characterized by increase of red blood cell ATP.
Catalyzes the interconversion of 3- and 2-phosphoglycerate with 2,3-bisphosphoglycerate as the primer of the reaction. Can also catalyze the interconversion of (2R)-2,3-bisphosphoglycerate and (2R)-3-phospho-glyceroyl phosphate, but with a reduced activity
Glycogen storage disease 10
A metabolic disorder characterized by myoglobinuria, increased serum creatine kinase levels, decreased phosphoglycerate mutase activity, myalgia, muscle pain, muscle cramps, exercise intolerance.
Triosephosphate isomerase is an extremely efficient metabolic enzyme that catalyzes the interconversion between dihydroxyacetone phosphate (DHAP) and D-glyceraldehyde-3-phosphate (G3P) in glycolysis and gluconeogenesis It is also responsible for the non-negligible production of methylglyoxal a reactive cytotoxic side-product that modifies and can alter proteins, DNA and lipids
Cytoplasm
Triosephosphate isomerase deficiency
An autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, progressive neuromuscular dysfunction, susceptibility to bacterial infection, and cardiomyopathy.
Mitochondrial aminoacyl-tRNA synthetase that catalyzes the specific attachment of the asparagine amino acid (aa) to the homologous transfer RNA (tRNA), further participating in protein synthesis (PubMed:25385316). The reaction occurs in a two steps: asparagine is first activated by ATP to form Asn-AMP and then transferred to the acceptor end of tRNA(Asn) (Probable)
Mitochondrion matrixMitochondrion
Combined oxidative phosphorylation deficiency 24
An autosomal recessive mitochondrial disorder with wide phenotypic variability. Some patients have a milder form affecting only skeletal muscle, whereas others may have a more severe disorder, reminiscent of Alpers syndrome. Alpers syndrome is a progressive neurodegenerative disorder that presents in infancy or early childhood and is characterized by diffuse degeneration of cerebral gray matter.
Insulin decreases blood glucose concentration. It increases cell permeability to monosaccharides, amino acids and fatty acids. It accelerates glycolysis, the pentose phosphate cycle, and glycogen synthesis in liver
Secreted
Hyperproinsulinemia
An autosomal dominant condition characterized by elevated levels of serum proinsulin-like material.
Transcription factor (PubMed:10207080, PubMed:9748269). Activates the epsilon- and gamma-globin gene promoters and, to a much lower degree, the beta-globin gene and represses promoters containing SP1-like binding inhibiting cell growth (PubMed:10207080, PubMed:16131492, PubMed:9748269). Represses transcription of SMAD7 which enhances TGF-beta signaling (By similarity). Induces apoptosis (By similarity)
Nucleus
Maturity-onset diabetes of the young 7
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Catalyzes the phosphorylation of various hexoses, such as D-glucose, D-glucosamine, D-fructose, D-mannose and 2-deoxy-D-glucose, to hexose 6-phosphate (D-glucose 6-phosphate, D-glucosamine 6-phosphate, D-fructose 6-phosphate, D-mannose 6-phosphate and 2-deoxy-D-glucose 6-phosphate, respectively) (PubMed:1637300, PubMed:25316723, PubMed:27374331). Does not phosphorylate N-acetyl-D-glucosamine (PubMed:27374331). Mediates the initial step of glycolysis by catalyzing phosphorylation of D-glucose to
Mitochondrion outer membraneCytoplasm, cytosol
Anemia, congenital, non-spherocytic hemolytic, 5
An autosomal recessive disorder characterized by hemolytic anemia as the predominant clinical feature, and decreased red cell hexokinase activity.
Acts as a transcriptional activator: mediates transcriptional activation by binding to E box-containing promoter consensus core sequences 5'-CANNTG-3'. Associates with the p300/CBP transcription coactivator complex to stimulate transcription of the secretin gene as well as the gene encoding the cyclin-dependent kinase inhibitor CDKN1A. Contributes to the regulation of several cell differentiation pathways, like those that promote the formation of early retinal ganglion cells, inner ear sensory n
CytoplasmNucleus
Maturity-onset diabetes of the young 6
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Catalyzes the hydrolysis of a wide range of substrates including cholesteryl esters, phospholipids, lysophospholipids, di- and tri-acylglycerols, and fatty acid esters of hydroxy fatty acids (FAHFAs) (PubMed:10220579, PubMed:27509211, PubMed:27650499, PubMed:8471055). Preferentially hydrolyzes FAHFAs with the ester bond further away from the carboxylate. Unsaturated FAHFAs are hydrolyzed more quickly than saturated FAHFAs (By similarity). Has an essential role in the complete digestion of dietar
Secreted
Maturity-onset diabetes of the young 8 with exocrine dysfunction
An autosomal dominant form of diabetes characterized by a primary defect in insulin secretion, exocrine pancreatic dysfunction, altered pancreatic morphology, recurrent abdominal pain, and fecal elastase deficiency. Disease onset is at less than 25 years of age.
Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunog
Cell membrane
Maturity-onset diabetes of the young 11
A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
Catalyzes one of the two ATP producing reactions in the glycolytic pathway via the reversible conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate (PubMed:30323285, PubMed:7391028). Both L- and D- forms of purine and pyrimidine nucleotides can be used as substrates, but the activity is much lower on pyrimidines (PubMed:18463139). In addition to its role as a glycolytic enzyme, it seems that PGK1 acts as a polymerase alpha cofactor protein (primer recognition protein) (PubMed:2324090). Acts
Cytoplasm, cytosolMitochondrion matrix
Phosphoglycerate kinase 1 deficiency
A condition with a highly variable clinical phenotype that includes hemolytic anemia, rhabdomyolysis, myopathy and neurologic involvement. Patients can express one or more of these manifestations, and some affected individuals develop parkinsonian symptoms.
Enolase that catalyzes the conversion of 2-phosphoglycerate to phosphoenolpyruvate in glycolysis and the reverse reaction in gluconeogenesis. Appears to have a function in striated muscle development and regeneration
Cytoplasm
Glycogen storage disease 13
A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen-beta particles are detected on ultrastructural analysis.
The mitochondrial D-lactate dehydrogenase is a stereoselective dehydrogenase that targets a wide variety of D-2-hydroxyacids, particularly those with small to moderately sized hydrophobic groups attached to the C2 atom. It includes D-lactate which is generated in small amounts either endogenously through the methylglyoxal metabolism pathway or exogenously via intestinal bacterial activity and dietary intake. The dehydrogenase acts specifically on D-lactate, not on its stereoisomer L-lactate, and
Mitochondrion
D-lactic aciduria with gout
An autosomal recessive metabolic disorder characterized by D-lactic aciduria in the presence of normal plasma lactic acid.
Isomerase that catalyzes the conversion of alpha-D-glucose-6-phosphate to beta-D-fructose-6-phosphate, the second step in glycolysis, and the reverse reaction in gluconeogenesis, within the cytoplasm (PubMed:28803808). Also shows C2-epimerase activity, interconverting D-glucose-6-phosphate (G6P) and D-mannose-6-phosphate (M6P) (By similarity). Also displays anomerase activity, interconverting alpha and beta-anomeric forms of G6P, D-fructose-6-phosphate and M6P (By similarity). In addition to its
CytoplasmSecreted
Anemia, congenital, non-spherocytic hemolytic, 4
An autosomal recessive form of anemia in which there is no abnormal hemoglobin or spherocytosis. It is caused by glucose phosphate isomerase deficiency.
Plays an important role in the differentiation and development of pancreatic islet beta cells. Transcriptional repressor that binds to a common element in the glucagon, insulin and somatostatin promoters. Competes with PAX6 for this same promoter binding site. Isoform 2 appears to be a dominant negative form antagonizing PAX4 transcriptional activity
Nucleus
Type 2 diabetes mellitus
A multifactorial disorder of glucose homeostasis caused by a lack of sensitivity to insulin. Affected individuals usually have an obese body habitus and manifestations of a metabolic syndrome characterized by diabetes, insulin resistance, hypertension and hypertriglyceridemia. The disease results in long-term complications that affect the eyes, kidneys, nerves, and blood vessels.
Medicamentos e terapias
Mecanismo: Pyruvate kinase isozymes R/L activator
Variantes genéticas (ClinVar)
1,204 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
77 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Alteração da glicólise
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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0 ensaios clínicos encontrados.
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PancreasGlycosomal Phosphoenolpyruvate Carboxykinase CRISPR/Cas9-Deletion and Its Role in Trypanosoma cruzi Metacyclogenesis and Infectivity in Mammalian Host.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyPristimerin ameliorates spasmolytic polypeptide-expressing metaplasia by modulating Cdkn1c (p57)-mediated glycolytic reprogramming.
World journal of gastroenterologyCase Report: Rethinking pulmonary arterial hypertension: immune and metabolic adaptations in a 34-year case of insidious progression.
Frontiers in cardiovascular medicineUntargeted Metabolomic and Lipidomic Profiling in Cystic Fibrosis Patients Using UPLC-QTOF-MS.
Journal of proteome researchCSDE1 Drives Glycolysis and the Progression of Prostate Cancer Through RAC1-Dependent RAS/MAPK Activation.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyBioenergetic Profiling of Lymphocytes in Patients With Visceral Leishmaniasis (VL) and Post Kala-Azar Dermal Leishmaniasis (PKDL).
Parasite immunologyA Unique Intercellular Feedforward Loop From HK1 to TGF-β1 Promotes the Progression of Hepatocellular Carcinoma.
Journal of extracellular vesiclesFNDC4 regulates TGF-β1-induced hepatic stellate cell activation and liver fibrosis via the AMPK/YAP pathway.
Free radical biology & medicineImmunometabolism of IRF4 in Adipose, Muscle, and Immune Cells Influences Obesity and MASLD.
American journal of physiology. Endocrinology and metabolismD-allose suppresses colitis associated carcinogenesis by reversing ER stress in macrophages and inhibiting cancer cell proliferation.
Frontiers in immunologyIn vivo imaging of metabolic heterogeneity across three endpoints relevant to aggressive breast cancer.
PNAS nexusA label-free microLC-SWATH-MS methodology with immunoaffinity depletion of highly abundant serum proteins for quantitative proteomic comparison of fresh-frozen human normal breast tissue and tumor clinical specimens.
Frontiers in molecular biosciencesAPOE4 drives widespread changes to the hepatic proteome and alters metabolic function.
iScienceAstrocyte Bioenergetic Remodeling as a Central Trait of Disrupted Glucocorticoid Signaling: Mechanisms and Implications for Stress Vulnerability.
Journal of neurochemistryPharmacological inhibition of glycolysis at the pyruvate-to-lactate conversion stage mitigates reperfusion injury without aggravating ischemic injury in mouse hearts.
European journal of pharmacologyPiezo1 modulates PFKFB3 during placental neovascularization in preeclampsia via YAP to regulate glycolysis in endothelial progenitor cells.
PlacentamiR-454-3p drives development of hepatic steatosis by negatively regulating JARID2.
Biochemical pharmacologyGlutamine antagonist DON attenuates chikungunya virus-induced myositis by suppressing inflammatory activation in a murine model.
Emerging microbes & infectionsThe role of lactate in retinal health and disease: mechanisms and potential therapeutic strategies. A narrative review.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieSea cucumber peptides alleviate hyperuricemic nephropathy via HIF-1α/NF-κB/STAT3-SIRT1/p300 axis-mediated metabolic and epigenetic modulation.
Food & functionGinsenoside Re regulates PFKFB3-mediated glycolysis to inhibit endothelial cell migration to ameliorate atherosclerosis.
Journal of ginseng researchA small‑molecule HDAC/PDE modulator activates human adipocyte UCP1 and resolves inflammatory signaling.
Journal of translational medicinePMM2 interacts with TRIM28 to recruit E2F4 and promote KIFC3-mediated tumor glycolysis and colorectal cancer progression.
OncogeneL-lactate-driven PSMD14 lactylation and stabilization promote lactate production and ferroptosis resistance via ENO1 in intrahepatic cholangiocarcinoma.
Cancer lettersEffects of metabolic tumor volume and total glycolytic activity on prognosis in oral cavity cancers.
Acta oto-laryngologicaMitochondrial PDHA1 acetylation orchestrates lactate-dependent epigenetic reprogramming to promote fibrosis via NUAK2.
Cellular and molecular life sciences : CMLSPGK1 Lactylation-Driven Self-Reinforcing Loop Orchestrates Glycolytic Reprogramming in FSP1+ Macrophages in Liver Fibrosis.
Research (Washington, D.C.)Gomphus floccosus (Schw.) Sing. extract attenuates alcoholic liver disease by suppressing macrophage glycolysis and M1 polarization.
Frontiers in immunologyMolecular Effect of Tobacco on Genetic, Epigenetic, and Metabolic Pathways During Cancer Progression.
CureusTofacitinib repairs inflammation and mitochondrial dysregulation in GM-CSF-reprogrammed RA macrophages.
Cellular & molecular immunologyAn acetylation-dependent switch underlies host disease tolerance during streptococcal infection.
Scientific reportsTGM2-mediated serotonylation in tumor endothelial cells promotes angiogenesis and tumor growth in colorectal cancer.
Cancer lettersDecoding the metabolic-immune axis for novel therapeutics in bladder cancer.
Biochimica et biophysica acta. Reviews on cancerDihydroartemisinin facilitates intestinal mucosal healing in inflammatory bowel disease by targeting 11βHSD-1 to reprogram macrophage metabolism.
Phytomedicine : international journal of phytotherapy and phytopharmacologyTelitacicept alleviates IgA nephropathy by targeting PDHA1 lactylation to inhibit B cell metabolic reprogramming and lactate-mediated renal injury.
European journal of medical researchPharmacological stabilization of hypoxia-inducible factor 1-α dampens the interferon response and promotes glycolysis in Aicardi-Goutières syndrome.
Nature communicationsWhole-body PET/CT reveals systemic dissemination in spinal tuberculosis: findings from the Spinal TB X cohort.
InfectionALG8-Driven Metabolic Reprogramming in Polycystic Kidney Disease: A Systematic Synthesis of Evidence Linking Glycosylation Defects to Metabolic Signaling.
IUBMB lifeKDM6B/Pdk1 glycolytic pathway-driven ZEB2 lactylation promotes cellular cementum formation.
International journal of oral scienceCDK8/CDK19 inhibition restores T-cell homeostasis in primary immune thrombocytopenia.
BloodCombined Expression of hRdCVF and hRdCVFL Through AAV-Mediated Delivery for the Treatment of Retinitis Pigmentosa.
Investigative ophthalmology & visual scienceEffect of PKM2 on M. tuberculosis Rv1987-induced macrophage M2 polarization.
Frontiers in cellular and infection microbiologyMetformin as an immunometabolic modulator in breast cancer: integrating NK and NKT cell responses.
3 BiotechAnalyses of astrocyte-neuron lactate shuttle transporter levels in brain tissues from people with HIV-associated neurocognitive impairment and Alzheimer's disease.
NeuroImmune pharmacology and therapeuticsα-Ketoglutarate protects against cartilage damage via epigenetically driven metabolic reprogramming in osteoarthritis models.
The Journal of clinical investigationRUNDC3A-AS1 is an adverse prognostic factor for triple-negative breast cancer which mediates the Warburg effect and Adriamycin resistance by targeting miR-224-3p/COL5A2.
Toxicology and applied pharmacologyDiscovery of Genes Related to Cuproptosis and Mitophagy to Improve Myocardial Infarction Diagnosis and Treatment.
Current gene therapyBeyond readthrough: ataluren restores mitochondrial function and reduces oxidative stress in FANCA-mutated cells via mTOR-DRP1 modulation.
Cell death discoveryPyruvate is a natural suppressor of interferon signaling by inducing STAT1 protein pyruvylation.
CellNeonatal Hyperoxia Induces Metabolic Reprogramming in Senescent Alveolar Macrophages, Leading to Persistent Lung Injury.
Frontiers in bioscience (Landmark edition)α-synuclein preformed fibrils suppress cell cycle progression and glycolytic flux in glioblastoma cells.
Experimental cell researchTranscriptomic analysis of cells following decreased mitochondrial DNA-copy number reveals compensatory mechanisms in mitochondrial DNA replication and cellular energetics.
Experimental cell researchStage-Dependent Function of Astrocytes in Alzheimer's Disease: A Review.
Neuroscience insightsMyeloid DRP1 Sulfenylation Drives Reparative Macrophage Polarization and Neovascularization in Ischemic Muscle.
bioRxiv : the preprint server for biologyLong-Read Isoform Sequencing Reveals Aroclor1260-Induced Isoform Usage in Mouse Livers.
GenesBody-Wide Glycolytic Shift, Oxidative Stress, and Sex-Specific Effect of Caloric Restriction in a Mouse Model of Alzheimer's Disease.
Antioxidants (Basel, Switzerland)Black Sesame Pigment Ameliorates Non-Alcoholic Fatty Liver Disease via Modulation of the Gut-Liver Axis and HIF-1 Signaling Pathway.
Antioxidants (Basel, Switzerland)α-Ketoglutarate restores redox and energy homeostasis to ameliorate splenic immune dysfunction induced by carbonate-alkaline stress in crucian carp (Carassius auratus).
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biologySpatio-temporal analysis deciphers the energy metabolism disorders in depression based on stable isotope-resolved metabolomics.
Journal of pharmaceutical and biomedical analysisTIGAR deficiency enhances cardiac resilience through epigenetic programming of Parkin expression.
JCI insightChromium(VI) Modulates Macrophage Polarization and Metabolic Reprogramming to Impair Immune Function.
ToxicsHost Serum Biomarker Signatures in Mycobacteriologically Cured Pulmonary Tuberculosis Patients with Persistent Lung Inflammation on 18F-FDG PET/CT.
Diseases (Basel, Switzerland)TCA cycle intermediates as an adjunct strategy for human iPSC-derived cardiomyocyte maturation.
BBA advancesCD4+T cell metabolic reprogramming as therapeutic targets in neurodegenerative diseases.
Molecular brainM2 macrophages promote lymphatic metastasis by regulating PKM2 nuclear translocation in triple-negative breast cancer.
Cell death & diseaseAMPK Deficiency Induces Corneal Epithelial Barrier Dysfunction by Modulating Energy Homeostasis.
Investigative ophthalmology & visual scienceMETTL3 Potentiates Corneal Allograft Rejection via Increased Pro-Inflammatory Cytokine Production and Aerobic Glycolysis.
Investigative ophthalmology & visual scienceFOXO1 Integrates Endothelial Hemodynamic, Inflammatory, and Metabolic Pathways in Atherosclerosis.
Circulation researchEnergetic metabolism-regulatory glycopeptide hydrogel accelerates pressure ulcer wound repair.
Bioactive materialsMulti-omics and causal inference reveal lactylation-based osteoblast regulatory networks and drug candidates.
iScienceMulti-omics-based study on the biological characteristics of kidney renal deficiency and blood stasis in ankylosing spondylitis.
Journal of traditional Chinese medicine = Chung i tsa chih ying wen panEnolase 1 suppresses influenza A virus replication by blocking the nuclear import of the viral ribonucleoprotein complex.
Cellular and molecular life sciences : CMLSLemon balm-derived nanovesicles restore mitochondrial function and reduce cytokine production in skin fibroblasts under pro-inflammatory conditions.
European journal of pharmaceutical sciences : official journal of the European Federation for Pharmaceutical SciencesLack of PCK1 in hepatic stellate cells causes liver fibrosis by fueling tricarboxylic acid cycle and increasing glycolysis.
Cell metabolismSingle-cell transcriptomics reveals phenotypic and functional alterations of erythroid progenitor cells in tuberculosis patients.
Tuberculosis (Edinburgh, Scotland)Lipophagy in chronic obstructive pulmonary disease: Mechanistic insights and emerging therapeutic targets.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieCyanidin-3-O-glucoside promotes late-stage venous thrombus resolution in mice, accompanied by reduced macrophage M1-associated inflammation and attenuated HIF-1α-linked signaling.
Food & functionmtDNA leakage promotes neuron-glia crosstalk to induce epilepsy by cGAS-STING-driven neuroinflammation and serine metabolic reprogramming.
Proceedings of the National Academy of Sciences of the United States of AmericaRepair of Corneal Epithelial Defects.
Progress in molecular and subcellular biologyPCMTD1-127aa suppresses osteosarcoma progression by competitively binding to USP10 to promote c-MYC degradation.
iScienceLactate-induced miR-7-5p/TRIM33 reprograms metabolic flux to suppress tumor growth and viral reactivation.
Molecular therapy : the journal of the American Society of Gene TherapyPFKP binding AMOTL1 promotes tumor aerobic glycolysis and epithelial-mesenchymal transition by modulating Hippo pathway in head and neck cancer.
Journal of translational internal medicineANGPTL8 accelerates bone loss in diabetic mice by promoting osteoclastic differentiation and inhibiting osteoblastic differentiation through AMPK pathway-mediated metabolic reprogramming.
Cellular and molecular life sciences : CMLSImmunotherapy in triple-negative breast cancer: From molecular mechanisms to precision medicine-overcoming resistance and optimizing clinical outcomes.
Critical reviews in oncology/hematologyCinnamaldehyde inhibits the progression of gastric cancer by regulating glycolysis through PTP1B/PI3K/AKT/mTOR signaling pathway.
Toxicology and applied pharmacologyRed blood cells serve as a primary glucose sink to improve glucose tolerance at altitude.
Cell metabolismDistinct gut microbiota signatures in white leghorn and silky fowl are associated with divergent laying performance.
Poultry scienceSimvastatin Targets PKM2 to Alter Metabolic Reprogramming in Hepatic Stellate Cells and Mitigate Liver Fibrosis.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyAnoctamin 5 mutation leads to abnormal bone homeostasis of GDD by regulating AMPK-dependent glucose metabolism.
Frontiers in endocrinologyDietary chromium picolinate-promoted oxidative phosphorylation may be a potential mean to improve hypoxia tolerance of juvenile grass carp (Ctenopharyngodon idella).
Animal nutrition (Zhongguo xu mu shou yi xue hui)Roles of immune cell metabolism in rheumatoid arthritis.
Frontiers in immunologyRestoring NAD⁺-Sirtuins Signaling: A Novel Approach to Combat Male Reproductive Aging.
The world journal of men's healthStructural characterization of glycolytic enzymes from Trypanosoma cruzi.
Molecular and biochemical parasitologyThe glycolytic enzyme PFKM promotes renal fibrosis by activating the NF-κB pathway via lactate-mediated H3K18 lactylation.
Cellular and molecular life sciences : CMLSCircadian-rhythm-based dynamics of the secretome in molecular subtypes of pancreatic ductal adenocarcinoma.
Expert review of proteomicsAdenosine-Specific Transcriptional Programs in Murine Connective Tissue-Type Mast Cells.
ACS pharmacology & translational scienceMetabolic interactions in the brain: the crucial roles of neurons, astrocytes, and microglia in health and disease.
Frontiers in neuroscienceTriptolide from Tripterygium wilfordii Suppresses Glycolysis and Induces Cuproptosis via the HK2/DLAT Signaling Pathway in Colorectal Cancer.
The American journal of Chinese medicineGlycolysis and NLRP3 inflammasome activation in diseases.
European journal of medical researchTargeting the SIN1 mediated TTK/LDHA-H3K18la-GLUT3 axis disrupts metabolic-epigenetic crosstalk and suppresses progression in hyperglycolytic breast cancer.
Cancer lettersDisrupted energy metabolism is associated with retinal ganglion cell degeneration in autosomal dominant optic atrophy.
Science advancesMitochondrial Metabolism in Neutrophils: Emerging Roles in Inflammatory Skin Diseases.
The British journal of dermatologyDistinct prognostic value of [18F]FDG PET and [68Ga]Ga-PSMA-11 PET in advanced hormone-sensitive prostate cancer.
Communications medicineβ-Catenin-Facilitated Glycolytic Reprogramming Fuels TNBC Progression: Therapeutic Blockade with XAV939.
Technology in cancer research & treatmentEp300-mediated acetylation plasticity in the acetyl-CoA metabolic network drives the protective role of intensive lifestyle intervention in visceral white adipose tissue.
Cell communication and signaling : CCSHypoxia-induced circ_0017521 enhances glycolysis and promotes NSCLC progression via upregulating the PFKFB3/PI3K-AKT pathway.
Mammalian genome : official journal of the International Mammalian Genome SocietyPKM2 Promotes Glycolysis in Alveolar Macrophages and Induces Inflammation in Bronchopulmonary Dysplasia.
InflammationSpatial profiling of the metabolism-immune axis in ovarian cancer.
Frontiers in pharmacologyHistone H4K8 lactylation promotes glioblastoma progression by inducing NUPR1-mediated autophagosome‒lysosome fusion.
TheranosticsDelactylase effects of SIRT3 on a positive feedback loop involving the RUNX1-glycolysis-histone lactylation in diabetic kidney disease.
International journal of biological sciencesNeoepitopes at the crossroads of immunometabolism: metabolic remodeling of antigen presentation in type 1 diabetes.
Frontiers in immunologyEnhanced CHI3L1 promotes macrophage activation in persistent inflammatory events of ulcerative interstitial cystitis.
Frontiers in immunologyIntegrative multi-omics analyses identify PKD1 and SLC2A4 as genetically supported glycolysis-related candidate genes for rheumatoid arthritis.
Frontiers in immunologyDysregulated Lipid and Protein Networks in Osteochondrosis.
Journal of proteome researchMetabolism in Tumour-Induced Bone Disease.
Current osteoporosis reportsPaeonol inhibits the progression of endometrial cancer by affecting TRIM26-mediated LDHA ubiquitination modification.
Tissue & cellENO2 and BPTF axis drives tumor progression and macrophage polarization in T2DM-associated colorectal cancer.
Pathology, research and practiceLactate targeting: Regulatory networks and therapeutic potential in bone diseases.
International immunopharmacologyPlasma metabolomics reveals distinct metabolic alterations and biomarkers of disease activity in HLA-B27-positive acute anterior uveitis.
Eye (London, England)A peptide drug targeting SASH1-PKM2 interaction promotes recovery of traumatic brain injury in mice.
Brain researchTopical ionic liquid-mediated GLUT1 gene editing ameliorates psoriasis and prevents recurrence.
BiomaterialsFASN-mediated metabolic reprogramming drives CD4+ T cell hyperactivation in Sjögren's syndrome via fatty acid oxidation-dependent oxidative phosphorylation.
Arthritis research & therapyImmunometabolism Reframes Alzheimer's Disease: From Systemic Dysmetabolism to Glial Rewiring.
Cellular and molecular neurobiologySpatiotemporal transcriptomic profiling reveals upregulation of glycolysis pathway genes before overt tauopathy in the PS19 mouse model.
Experimental & molecular medicineUSP30-mediated Deubiquitination of Hexokinase 2 controls the metabolic fate of glucose and tumor progression.
Cell death & diseaseSaquinavir induces pyroptosis through the OTUD5-JAK1-GSDME axis in hepatocellular carcinoma.
Free radical biology & medicineADARB1 inhibits glycolysis and progression of cervical cancer through the HMGB1/PFKFB3 axis.
Biochimica et biophysica acta. Molecular basis of diseaseSTARD10 regulates human pancreatic β cell differentiation and triglyceride metabolism.
Stem cell reportsIntegrative metabolomics and lipidomics reveal Jian-Pi-Yi-Shen formula improves adenine-induced CKD rats by regulating intrarenal glycolipid metabolism.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciencesYiqi Daozhi Formula Reduces the M1 Polarization of Macrophages in Mice With Postoperative Ileus Through Mediating Glycolysis Metabolism.
Immunity, inflammation and diseaseMulti-Organ Transcriptomic Analysis of Greater Amberjack (Seriola dumerili) with Different Growth Rates.
Animals : an open access journal from MDPIHistone lactylation leads to perioperative neurocognitive disorders by promoting the expression of Ralbp1 and inducing excessive mitochondrial fission in hippocampal neurons.
Cellular and molecular life sciences : CMLSCUL4A promotes glycolytic metabolism of fibroblast-like synoviocytes by targeting FGF2 in rheumatoid arthritis.
Biochemical pharmacologyComprehensive Proteomics and β-Hydroxybutyrylation Profiling in Starvation-Induced Gastrocnemius Muscle Remodeling.
BiologyTissues Guide Dependence of Treg on the Transferrin Receptor.
bioRxiv : the preprint server for biologyFrogs uncouple neural activity from oxygen consumption after hibernation.
bioRxiv : the preprint server for biologyRole of lactylation modification in regulating lytic cell death.
Frontiers in oncologyThe metabolic consequences of evoked spreading depolarization in brain slices.
Scientific reportsPredictive and prognostic value of a glucose metabolism disorder and immune-related gene signature in glioma.
NeuroscienceM6A demethylase FTO in leukemia: Function, molecular mechanisms, and therapeutic implications.
Pathology, research and practiceRegulatory mechanisms and targeted therapeutic strategies of glycolytic metabolism in rheumatoid arthritis.
Autoimmunity reviewsSemaglutide ameliorates osteoarthritis progression through a weight loss-independent metabolic restoration mechanism.
Cell metabolismSrc-mediated PHB2 phosphorylation disrupts mitochondrial cristae through cardiolipin dissociation in hepatocellular carcinoma.
Redox biologyMetabolic surgery mitigates early kidney injury in obese youth with diabetes by suppressing mTORC1/JAK-STAT signaling.
The Journal of clinical investigationDysregulation of Farnesoid X Receptor on Neutrophil Homeostasis Exacerbates Intestinal Inflammation via the mTORC1-Glycolysis Signaling Pathway.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Peripheral amylin modulation rebalances brain glycolysis and Tau-Ser214 phosphorylation via cAMP-PKA signaling.
- Targeting the astrocytic metabolic cascade in Alzheimer's disease: mechanisms, challenges and opportunities.
- Extracellular matrix stiffness drives cutaneous squamous cell carcinoma malignant progression via YAP-dependent glycolysis.
- Neuroprotective response against the onset of ischemic stroke by upregulation of histone H3Y99 sulfation.
- Hepatic GAPDH prevents excessive fasting-induced steatosis via serine-dependent inhibition of diacylglycerol synthesis.
- Effect of electroacupuncture on postoperative delirium in elderly patients undergoing laparoscopic radical prostatectomy: study protocol for a double-center randomized controlled trial.
- Advances in dry eye disease: from immunopathological mechanisms to emerging ophthalmic drug delivery systems.
- Acute Suppurative Thyroiditis Caused by Escherichia coli in an Immunocompetent Adult: A Case Report.
- Gut microbiome modulation in allergic rhinitis: from current evidence to emerging therapies.
- Antiphospholipid Syndrome and Cardiovascular Disease.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:308459(Orphanet)
- MONDO:0017688(MONDO)
- GARD:21306(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787283(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
